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Unbound Medicine.
(synophthalmia)
120 results
  • An osteological assessment of cyclopia by micro-CT scanning. [Journal Article]
    Surg Radiol Anat. 2019 Sep; 41(9):1053-1063.Kramer B, Molema K, Hutchinson EF
  • CONCLUSIONS: This study supports the suggestion that the malformations of the visceral bones are secondary to defective development of the presphenoid and mesethmoid cartilages. The ethmoidal bones are important midline struts during normal development and their absence in cyclopia leads to non-laterality of facial features.
  • Cellular identities in an unusual presentation of cyclopia in a chick embryo. [Case Reports]
    J Exp Zool B Mol Dev Evol. 2019 09; 332(6):179-186.Palmquist-Gomes P, Pérez-Pomares JM, Guadix JA
  • Cyclopia is a congenital anomaly characterized by the presence of a single or partially divided eye in a single orbit at the body midline. This condition is usually associated with other severe facial malformations, such as the absence of the nose and, on rare occasions, the presence of a proboscis located above the ocular structures. The developmental origin of cyclopia in vertebrates is the fai…
  • Rare association of cyclopia with craniospinal rachischisis. [Case Reports]
    Indian J Pathol Microbiol. 2019 Apr-Jun; 62(2):283-286.Rodrigues LD, Arakeri SU, Dwarampudi RS
  • Cyclopia is a severe form of holoprosencephaly which results in children being born with just one eye, absence of nose and presence of a proboscis above the median eye. Incidence of cyclopia is around 1.05 in 1, 00,000 births, including stillbirths. The association of anencephaly with spinal rachichisis varies from 17-50%. However, the existence of cyclopia with anencephaly and spinal rachischisi…
  • Holoprosencephaly in the genomics era. [Review]
    Am J Med Genet C Semin Med Genet. 2018 06; 178(2):165-174.Roessler E, Hu P, Muenke M
  • Holoprosencephaly (HPE) is the direct consequence of specific genetic and/or environmental insults interrupting the midline specification of the nascent forebrain. Such disturbances can lead to a broad range of phenotypic consequences for the brain and face in humans. This malformation sequence is remarkably common in utero (1 in 250 human fetuses), but 97% typically do not survive to birth. The …
  • Cyclopia: isolated and with agnathia-otocephaly complex. [Case Reports]
    BMJ Case Rep. 2017 Aug 30; 2017Wai LT, Chandran S
  • Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two cavities. We report two cases, one with cyclopia and another case of cyclopia with agnathia-otocephaly complex (AOC). AOC (also known as agnathia-microstomia-synotia syndrome) is a rare lethal congenital malform…
  • Cyclopia and proboscis - the extreme end of holoprosencephaly. [Case Reports]
    Rom J Morphol Embryol. 2017; 58(4):1555-1559.Măluţan AM, Dudea M, … Mihu D
  • Holoprosencephaly (HPE), a major congenital abnormality in brain development is characterized by the absence or incomplete cleavage of prosencephalon into separate hemispheres, with cyclopia as the extreme manifestation of HPE, presenting as a failure of embryonic prosencephalon to properly divide the orbits of the eye in two cavities. We report the case of a 15-year-old pregnant patient, who del…
  • [Frequency of holoprosencephaly in Chile]. [Journal Article]
    Rev Med Chil. 2015 Jul; 143(7):874-9.Nazer Herrera J, Cifuentes Ovalle L, Cortez López A
  • CONCLUSIONS: Holoprosencephaly has a low frequency in Chile and is associated to trisomy 13. The increase in prevalence could be explained by a better prenatal diagnosis (ultrasonography).
  • Antithrombotic and antiplatelet activities of vicenin-2. [Journal Article]
    Blood Coagul Fibrinolysis. 2015 Sep; 26(6):628-34.Lee W, Bae JS
  • Cyclopia subternata is a medicinal plant commonly used in traditional medicine to relieve pain in physiological processes. However, there are limited modern data on its pharmacological effects and active components relating to its traditional use. Here, the anticoagulant and antiplatelet activities of vicenin-2 (VCN), an active compound in C. subternata, were determined. The anticoagulant activit…
  • Synophthalmia in a Holstein cross calf. [Case Reports]
    Vet Res Forum. 2014 Fall; 5(4):333-5.Nourani H, Karimi I, Rajabi Vardanjani H
  • Synophthalmia is a form of cyclopia, in which some elements of two eyes are fused and form a single eye in the middle region of the forehead. The head of a Holstein female calf born from a 5-year-old cow was referred to Department of Pathology, School of Veterinary Medicine, Shahrekord University due to multiple congenital anomalies. The calf had been slaughtered immediately after birth due to se…
  • Differentiation of true anophthalmia from clinical anophthalmia using neuroradiological imaging. [Case Reports]
    World J Radiol. 2014 Jul 28; 6(7):515-8.Celebi AR, Sasani H
  • Anophthalmia is a condition of the absence of an eye and the presence of a small eye within the orbit. It is associated with many known syndromes. Clinical findings, as well as imaging modalities and genetic analysis, are important in making the diagnosis. Imaging modalities are crucial scanning methods. Cryptophthalmos, cyclopia, synophthalmia and congenital cystic eye should be considered in di…
  • Cyclopamine: from cyclops lambs to cancer treatment. [Review]
    J Agric Food Chem. 2014 Jul 30; 62(30):7355-62.Lee ST, Welch KD, … Chang CW
  • In the late 1960s, the steroidal alkaloid cyclopamine was isolated from the plant Veratrum californicum and identified as the teratogen responsible for craniofacial birth defects including cyclops in the offspring of sheep grazing on mountain ranges in the western United States. Cyclopamine was found to inhibit the hedgehog (Hh) signaling pathway, which plays a critical role in embryonic developm…
  • Precocious synapses in 13.5-week fetal holoprosencephalic cortex and cyclopean retina. [Case Reports]
    Brain Dev. 2014 Jun; 36(6):463-71.Sarnat HB, Resch L, … Yu W
  • CONCLUSIONS: Holoprosencephaly exhibits abnormal patchy synapse distribution in the neocortex and retina; synaptogenesis was precocious, as we previously described in older fetuses. Too soon an onset of synapse formation may promote early epileptic circuitry, leading to severe infantile epilepsies postnatally. The visual system is the last of the special sensory systems to mature, yet in this case showed too early synapse formation. In HPE, cyclopia and in trisomy 13, total absence of external ears has not been reported; it results from faulty craniofacial induction by neural crest.
  • Phenotypic variability in Patau syndrome. [Journal Article]
    Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun; 117(2):321-7.Caba L, Rusu C, … Gorduza EV
  • CONCLUSIONS: Patau syndrome is a disease with variable expression and is characterized by a pattern of abnormal prenatal development characterized by facial dysmorphia, polydactyly and severe birth defects (heart, brain) that generate an increased in utero and perinatal mortality.
  • Congenital disorder of true cyclopia with polydactylia: case report and review of the literature. [Case Reports]
    Clin Exp Obstet Gynecol. 2013; 40(3):460-2.Deftereou TE, Tsoulopoulos V, … Lambropoulou M
  • Cyclopia is a rare type of holoprosencephaly and a congenital disorder characterized by the failure of the embryonic forebrain to properly divide the orbits of the eye into two cavities (the embryonic forebrain is normally responsible for inducing the development of the orbits). As a result a birth defect in which there is only one eye is developed. This eye is centrally placed in the area normal…
  • Multiple complex congenital malformations in a rabbit kit (Oryctolagus cuniculi). [Case Reports]
    Comp Med. 2013 Aug; 63(4):342-7.Booth JL, Peng X, … Cooper TK
  • Congenital malformations may occur during early embryogenesis in cases of genetic abnormalities or various environmental factors. Affected subjects most often have only one or 2 abnormalities; subjects rarely have several unrelated congenital defects. Here we describe a case of a stillborn New Zealand white rabbit with multiple complex congenital malformations, including synophthalmia, holoprosen…
  • A screen of zebrafish mutants identifies ethanol-sensitive genetic loci. [Journal Article]
    Alcohol Clin Exp Res. 2014 Mar; 38(3):694-703.Swartz ME, Wells MB, … Eberhart JK
  • CONCLUSIONS: Our results provide insight into the gene-EtOH interactions that may underlie EtOH teratogenesis. They support previous findings that EtOH disrupts elongation of the embryonic axis. Importantly, these results show that the zebrafish is an efficient model with which to test for gene-EtOH interactions. Understanding these interactions will be crucial to understanding of the FASD variation.
  • Ethanol alters gene expression and cell organization during optic vesicle evagination. [Journal Article]
    Neuroscience. 2013 Oct 10; 250:493-506.Santos-Ledo A, Cavodeassi F, … Arévalo R
  • Ethanol has been described as a teratogen in vertebrate development. During early stages of brain formation, ethanol affects the evagination of the optic vesicles, resulting in synophthalmia or cyclopia, phenotypes where the optic vesicles partially or totally fuse. The mechanisms by which ethanol affects the morphogenesis of the optic vesicles are however largely unknown. In this study we make u…
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